Early and Longitudinal Assessment of Neurodegeneration in the Brain and Spinal Cord in Friedreich's Ataxia
|The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.|
|ClinicalTrials.gov Identifier: NCT01776164|
Recruitment Status : Enrolling by invitation
First Posted : January 28, 2013
Last Update Posted : January 17, 2018
Friedreich's ataxia is characterized by progressive alterations in the function of the cerebellum accompanied by an atrophy of the spinal cord. Although the genetic defect responsible for the disease has been identified more than 15 years ago, objective markers of the pathologic process (i.e., biomarkers) that would allow measuring the effects of potential therapies are still lacking. Moreover, it is still unclear how the malfunction of the cerebellum affects the rest of the brain, and understanding the connectivity and neurochemistry of the central nervous system might yield new insights in the understanding of the disease, in addition to providing potential markers.
To address these needs, the investigators aim at utilizing the capabilities of Magnetic Resonance Imaging (MRI) and Spectroscopy (MRS). Using techniques called Diffusion Imaging, resting-state functional MRI, and Proton Spectroscopy (1H MRS), the investigators propose to determine the differences in the connectivity and neurochemistry of the spinal cord and the brain between patients affected by Friedreich's ataxia and healthy controls. The investigators plan on imaging both patients and control subjects using a 3T magnet, a system that although not yet available in all medical facilities, is becoming standard in most hospitals and clinics. The first aim is to scan patients already scanned last year (12-month follow-up). The second aim is to scan patients at an early stage of the disease.
|Condition or disease|
|Study Type :||Observational|
|Estimated Enrollment :||32 participants|
|Official Title:||Early and Longitudinal Assessment of Neurodegeneration in the Brain and Spinal Cord in Friedreich's Ataxia|
|Study Start Date :||January 2013|
|Estimated Primary Completion Date :||October 2018|
|Estimated Study Completion Date :||October 2018|
Patient with FRDA
Patients affected by Friedreich's ataxia
Healthy volunteers age- and gender-matched with no neurological disease identified.
- Difference in connectivity (apparent coefficient of diffusion, fractional anisotropy, radial and axial diffusivity), anatomy (cortical thickness, volumetry analysis) and biochemistry (metabolite concentrations) between patients and controls [ Time Frame: 1 year ]
The investigators will look at the differences between patients and controls. This is observational, not interventional.
The fractional anisotropy (FA) is a scalar value. The apparent coefficient of diffusion, radial and axial diffusivity are measured in mm2/s. The metabolite concentrations in the brain are in the order of µg/ g wet tissue weight. Cortical thickness is measured in mm.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01776164
|United States, Minnesota|
|University of Minnesota|
|Minneapolis, Minnesota, United States, 55455|
|Principal Investigator:||Pierre-Gilles Henry, Ph.D.||University of Minnesota - Clinical and Translational Science Institute|
|Principal Investigator:||Christophe Lenglet, Ph.D||University of Minnesota - Clinical and Translational Science Institute|